A90V TDP-43 variant results in the aberrant localization of TDP-43 in vitro.

@article{Winton2008A90VTV,
  title={A90V TDP-43 variant results in the aberrant localization of TDP-43 in vitro.},
  author={Matthew J. Winton and Vivianna M Van Deerlin and Linda K. Kwong and Wuxing Yuan and Elisabeth McCarty Wood and C E Yu and Gerard D. Schellenberg and Rosa Rademakers and Richard J. Caselli and Anna M. Karydas and John Q. Trojanowski and Bruce L. Miller and Virginia M-Y Lee},
  journal={FEBS letters},
  year={2008},
  volume={582 15},
  pages={2252-6}
}
TAR DNA-binding protein-43 (TDP-43) is a highly conserved, ubiquitously expressed nuclear protein that was recently identified as the disease protein in frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTLD-U) and amyotrophic lateral sclerosis (ALS). Pathogenic TDP-43 gene (TARDBP) mutations have been identified in familial ALS kindreds, and here we report a TARDBP variant (A90V) in a FTLD/ALS patient with a family history of dementia. Significantly, A90V is located between… CONTINUE READING